Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22

  • Asieh Mosallanejad Mail Imam Hossein Medical Center, Shahid Beheshti University of Medical Science, Tehran, Iran.
  • Fatemeh Sayarifard Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Sima Hosseinverdi Molecular Immunology Research Center, Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
  • Farzaneh Abbasi Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Hosein Shabni Mirzaee Department of Pediatric Endocrinology, Bahrami Hospital, Tehran University of Medical Sciences,Tehran, Iran.
  • Nima Rezaei Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medicl Sciences, Tehran, Iran. AND Universal Scientific Education and Research Network (USERN), Tehran, Iran.
Keywords:
Cat eye syndrome, Ocular coloboma, Congenital heart defects, Vaginal neuroma.

Abstract

There is a number of syndromes, associated with proptosis, micrognathia, low-set ear and chest deformity. Herein, we report a 9-year-old female with such phenotype who was presented with a vaginal neuroma. The result of karyotype showed 47XX, with extra marker chromosome 22. Although such a manifestation had not been reported in the literature, it should be considered as a very rare manifestation of the disease.

References

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Published
2015-10-21
How to Cite
1.
Mosallanejad A, Sayarifard F, Hosseinverdi S, Abbasi F, Shabni Mirzaee H, Rezaei N. Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22. Acta Med Iran. 53(12):782-784.
Section
Case Report(s)